Mutagenetix > Incidental Mutation

Incidental Mutation 'R2109:Pot1b'

232421

Institutional Source

Beutler Lab

Gene Symbol

Pot1b

Ensembl Gene

ENSMUSG00000024174

Gene Name

protection of telomeres 1B

Synonyms

MMRRC Submission

040113-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2109 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55652025-55712628 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 55653413 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 639 (I639N)

Ref Sequence

ENSEMBL: ENSMUSP00000084089 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086876]

AlphaFold

H7BX60

Predicted Effect

probably benign
Transcript: ENSMUST00000086876
AA Change: I639N

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000084089
Gene: ENSMUSG00000024174
AA Change: I639N

Domain	Start	End	E-Value	Type
Telo_bind	11	141	1.74e-51	SMART
Pfam:POT1PC	152	299	7.9e-40	PFAM
low complexity region	313	333	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for one null mutation display male infertility with age, male germ cell apoptosis, hyperpigmentation, increased apoptosis in intestinal crypts, and decreased body size. Mice homozygous for a transgenic gene disruption exhibit neonatal lethality with possible stem cell defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1190002N15Rik	A	T	9: 94,524,445	I303N	probably damaging	Het
1700001C02Rik	G	A	5: 30,480,507	G66E	probably damaging	Het
2410002F23Rik	G	T	7: 44,251,011	R113S	probably benign	Het
Ackr2	A	T	9: 121,908,960	I134F	probably damaging	Het
Actr3b	T	A	5: 25,831,711	I174N	possibly damaging	Het
Akap9	T	A	5: 4,044,847	S2214T	possibly damaging	Het
Arhgef12	C	A	9: 42,979,472	R986L	possibly damaging	Het
BC049762	T	A	11: 51,254,437	I108F	possibly damaging	Het
Brap	G	T	5: 121,663,359	S59I	possibly damaging	Het
Btnl1	C	T	17: 34,379,604	H65Y	probably damaging	Het
C1s2	T	C	6: 124,635,045	T121A	probably damaging	Het
Capn1	T	A	19: 6,014,358	Y37F	probably benign	Het
Ccdc39	T	C	3: 33,815,501	K726E	probably damaging	Het
Cd300lb	G	A	11: 114,926,039	S195F	probably damaging	Het
Cenpf	T	C	1: 189,679,067	K307E	probably damaging	Het
Chodl	A	C	16: 78,941,363	N73T	possibly damaging	Het
Crnn	A	T	3: 93,148,440	M178L	probably benign	Het
Cyp4a12b	A	G	4: 115,432,913	D221G	probably damaging	Het
D10Wsu102e	C	T	10: 83,365,792	S143L	probably damaging	Het
Dmxl2	A	G	9: 54,393,813	V2338A	probably benign	Het
Dnah9	G	T	11: 66,037,585	P2086Q	probably damaging	Het
Dsg2	A	G	18: 20,592,289	I486V	probably benign	Het
E2f8	A	G	7: 48,875,107	S265P	probably damaging	Het
Eif1b	A	G	9: 120,494,230	D52G	probably benign	Het
Etl4	A	T	2: 20,785,342	T602S	probably benign	Het
Exoc3l2	A	T	7: 19,489,134		probably benign	Het
Fbxl6	C	A	15: 76,536,973	V297F	probably damaging	Het
Fgr	T	A	4: 132,998,475	N398K	probably benign	Het
G3bp1	A	G	11: 55,489,160	R107G	probably damaging	Het
Gp2	A	T	7: 119,452,932	N186K	probably benign	Het
Hbs1l	T	A	10: 21,341,932	L249*	probably null	Het
Hmgcs2	T	A	3: 98,297,021	L246*	probably null	Het
Hsp90ab1	G	T	17: 45,569,328	H96Q	probably benign	Het
Ibtk	C	T	9: 85,706,550	V1078I	probably benign	Het
Ltn1	T	C	16: 87,415,642	D677G	probably benign	Het
Lyst	C	T	13: 13,712,820	T3078I	possibly damaging	Het
Mamdc4	A	G	2: 25,569,390	F199S	probably damaging	Het
Megf6	G	T	4: 154,177,121	V68L	probably benign	Het
Mki67	G	A	7: 135,697,863	T1814I	probably damaging	Het
Mttp	A	T	3: 138,095,002	F766I	probably benign	Het
Nbl1	T	A	4: 139,083,604		probably null	Het
Nmrk1	T	A	19: 18,641,438	L118Q	probably damaging	Het
Olfr1381	T	G	11: 49,552,433	S229A	probably damaging	Het
Oog3	A	T	4: 144,159,512	L172H	probably damaging	Het
Osbpl1a	T	G	18: 12,759,400	Q332P	probably damaging	Het
Pik3cg	A	G	12: 32,193,710	F921L	possibly damaging	Het
Plch2	T	C	4: 154,984,597	S1086G	possibly damaging	Het
Plekha5	A	G	6: 140,424,216	T18A	possibly damaging	Het
Pogz	T	A	3: 94,878,965	S955T	probably benign	Het
Prkdc	T	C	16: 15,687,390	I852T	probably benign	Het
Prps1l1	A	G	12: 34,985,522	K212R	probably benign	Het
Ptpn5	A	G	7: 47,086,059	Y304H	probably damaging	Het
Ralgapa1	A	G	12: 55,776,188	I281T	possibly damaging	Het
Rgs22	A	T	15: 36,099,734	Y278*	probably null	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Rnf213	T	A	11: 119,442,663	Y2899*	probably null	Het
Rttn	C	T	18: 88,986,073	T397I	possibly damaging	Het
Sacs	G	T	14: 61,173,453		probably null	Het
Sbf2	G	T	7: 110,461,212	Q182K	probably damaging	Het
Sec14l5	C	T	16: 5,167,104	R105*	probably null	Het
Sh2b1	A	T	7: 126,472,364	D216E	possibly damaging	Het
Sh3gl3	A	G	7: 82,270,800	N72S	possibly damaging	Het
Slc12a1	A	T	2: 125,173,699	I391F	probably damaging	Het
Slc36a2	G	A	11: 55,181,555	A77V	probably damaging	Het
Smc2	A	T	4: 52,474,987	I888L	probably benign	Het
Smoc1	C	T	12: 81,150,676	T194M	probably damaging	Het
Sorcs1	C	T	19: 50,678,192	G93R	probably benign	Het
Sox30	T	G	11: 45,991,768	F542V	probably damaging	Het
Svep1	A	G	4: 58,206,030	V116A	possibly damaging	Het
Synj2	A	G	17: 6,013,691	D330G	probably benign	Het
Tenm3	A	C	8: 48,343,349	S202A	possibly damaging	Het
Tg	C	T	15: 66,729,594	T151I	probably benign	Het
Tnfaip2	A	G	12: 111,448,093	E361G	probably damaging	Het
Tnk1	A	T	11: 69,855,183	D305E	probably damaging	Het
Tpp1	A	G	7: 105,749,970	L133P	probably damaging	Het
Trappc1	T	A	11: 69,324,417	M41K	probably damaging	Het
Tsen54	A	G	11: 115,815,723	D9G	probably damaging	Het
Ttn	T	A	2: 76,974,254	I225F	probably damaging	Het
Ube4b	T	C	4: 149,372,841	K313R	probably benign	Het
Vps50	T	C	6: 3,555,379	V425A	probably damaging	Het
Wbp2	A	T	11: 116,080,619	Y153*	probably null	Het
Xrn1	A	G	9: 95,979,220	S478G	probably benign	Het
Zfp354c	T	C	11: 50,817,142	E77G	probably benign	Het
Zfp462	T	C	4: 55,008,496	M154T	probably benign	Het
Zfp704	A	G	3: 9,474,525	V255A	probably damaging	Het
Zfp763	G	T	17: 33,019,778	A131E	probably benign	Het
Zfp931	A	T	2: 178,069,858	V32E	probably null	Het

Other mutations in Pot1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01484:Pot1b	APN	17	55695160	missense	possibly damaging	0.94
IGL01796:Pot1b	APN	17	55669750	missense	possibly damaging	0.53
IGL01810:Pot1b	APN	17	55662521	missense	possibly damaging	0.68
IGL02371:Pot1b	APN	17	55695092	missense	possibly damaging	0.91
IGL02553:Pot1b	APN	17	55695024	splice site	probably benign
IGL02957:Pot1b	APN	17	55700009	missense	probably damaging	0.99
IGL02975:Pot1b	APN	17	55662454	splice site	probably benign
IGL03172:Pot1b	APN	17	55695206	missense	possibly damaging	0.60
boulder	UTSW	17	55672865	nonsense	probably null
erosion	UTSW	17	55687834	missense	probably damaging	0.99
G1Funyon:Pot1b	UTSW	17	55687895	missense	probably benign
R0020:Pot1b	UTSW	17	55653429	missense	probably benign	0.03
R0540:Pot1b	UTSW	17	55665765	missense	probably damaging	0.98
R0607:Pot1b	UTSW	17	55665765	missense	probably damaging	0.98
R0882:Pot1b	UTSW	17	55666400	splice site	probably benign
R1164:Pot1b	UTSW	17	55674085	missense	probably benign	0.18
R1476:Pot1b	UTSW	17	55653451	missense	possibly damaging	0.73
R1874:Pot1b	UTSW	17	55654805	missense	probably benign
R1955:Pot1b	UTSW	17	55674067	missense	possibly damaging	0.73
R1960:Pot1b	UTSW	17	55662531	missense	probably damaging	0.99
R1961:Pot1b	UTSW	17	55662531	missense	probably damaging	0.99
R2895:Pot1b	UTSW	17	55687939	missense	probably damaging	0.98
R2943:Pot1b	UTSW	17	55674058	missense	probably benign
R4681:Pot1b	UTSW	17	55654831	missense	probably benign	0.28
R4763:Pot1b	UTSW	17	55695160	missense	possibly damaging	0.94
R4821:Pot1b	UTSW	17	55672885	missense	possibly damaging	0.73
R5079:Pot1b	UTSW	17	55669801	missense	probably benign	0.18
R5146:Pot1b	UTSW	17	55672865	nonsense	probably null
R5176:Pot1b	UTSW	17	55699995	missense	probably benign	0.05
R5394:Pot1b	UTSW	17	55700063	missense	probably benign	0.19
R5752:Pot1b	UTSW	17	55687834	missense	probably damaging	0.99
R6866:Pot1b	UTSW	17	55653474	missense	possibly damaging	0.83
R8301:Pot1b	UTSW	17	55687895	missense	probably benign
R8390:Pot1b	UTSW	17	55692739	missense	probably benign	0.00
R8750:Pot1b	UTSW	17	55666537	missense	probably benign
R9042:Pot1b	UTSW	17	55699991	critical splice donor site	probably null
R9564:Pot1b	UTSW	17	55662465	missense	possibly damaging	0.92
R9565:Pot1b	UTSW	17	55662465	missense	possibly damaging	0.92
R9611:Pot1b	UTSW	17	55699995	missense	probably benign	0.05
R9727:Pot1b	UTSW	17	55692795	missense	possibly damaging	0.92
RF014:Pot1b	UTSW	17	55674106	missense	probably benign	0.12
X0062:Pot1b	UTSW	17	55695154	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CTAATTGTCACCCTGGGCATG -3'
(R):5'- AATCTCTTTCATCTGAGGTTGGGAC -3'

Sequencing Primer
(F):5'- TCACCCTGGGCATGTTGAG -3'
(R):5'- GCTGAATGGTATGTCCTC -3'

Posted On

2014-09-18